Human Bisulfite Sequencing and Analysis Test
Short Name: Bisulfite Sequencing
Also known as: Bisulfite Sequencing, Methylation Sequencing, Epigenetic Analysis
Human Bisulfite Sequencing and Analysis Test test available at DNA Labs India for ₹120,000. Uses Bisulfite conversion, Next-generation sequencing, Bioinformatics analysis on Extracted DNA samples. Results in 10 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The primary purpose of human bisulfite sequencing is to identify and quantify DNA methylation changes that may contribute to disease pathogenesis. It aids in diagnosing conditions where methylation abnormalities are known, such as imprinting disorders, certain cancers, and neurodevelopmental syndromes. Additionally, it can be used for prognostic assessment and monitoring therapeutic response in oncology. By providing a genome-wide methylation profile, this test offers insights that complement traditional genetic testing.
- Test Code
- 6355
- CPT Code
- 81479
- ICD Code
- Z13.89
- Price
- ₹120,000
- Sample Type
- Extracted DNA
- Result Time
- 10 weeks
- Fasting Required
- No
- Method
- Bisulfite conversion, Next-generation sequencing, Bioinformatics analysis
Sample Collection
No special preparation is required. However, inform your doctor about any medications or supplements you are taking, as some may affect methylation patterns.
Method: Blood or tissue sample
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist. For tissue samples, a biopsy procedure may be performed. Ensure the sample is handled properly to avoid contamination.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately. The sample will be processed in the laboratory.
Timeline: 10 weeks
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of human bisulfite sequencing is to identify and quantify DNA methylation changes that may contribute to disease pathogenesis. It aids in diagnosing conditions where methylation abnormalities are known, such as imprinting disorders, certain cancers, and neurodevelopmental syndromes. Additionally, it can be used for prognostic assessment and monitoring therapeutic response in oncology. By providing a genome-wide methylation profile, this test offers insights that complement traditional genetic testing.
How to Prepare
- Use sterile DNAase-free tubes
- Label the sample with patient ID and date
- Store at 2-8°C if processing is delayed
- Avoid repeated freeze-thaw cycles
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Bisulfite sequencing is a powerful tool for identifying epigenetic changes that may not be detected by standard genetic tests. It is particularly valuable in oncology and neurodevelopmental disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood samples
- Insufficient DNA quantity (<1 µg)
- DNA degradation (e.g., high molecular weight smear)
- Improper labeling or handling
Understanding Your Results
Normal methylation profile
No significant epigenetic abnormality detected
Hypermethylation at tumor suppressor gene promoter
May indicate increased cancer risk or presence of malignancy
Hypomethylation at oncogene promoter
May lead to gene overexpression and oncogenesis
Imprinting center methylation abnormality
Suggests imprinting disorder (e.g., Prader-Willi, Angelman)
If you have symptoms suggestive of a genetic or epigenetic disorder, or if you have a family history of such conditions, consult a geneticist or your primary care physician. Early diagnosis can guide management and family planning.
Limitations
- ⚠Does not detect all types of epigenetic modifications
- ⚠Requires high-quality DNA; degraded samples may fail
- ⚠Interpretation may be complex and require expert analysis
- ⚠Not a substitute for clinical diagnosis; results should be correlated with symptoms
- ⚠May not be covered by insurance
Risks & Considerations
- ●Bruising or bleeding at the puncture site
- ●Infection (rare)
- ●Emotional distress from results
Interfering Factors
- ●Poor DNA quality or quantity
- ●Incomplete bisulfite conversion
- ●Contamination with RNA or proteins
- ●Recent blood transfusion (for blood samples)
- ●Chemotherapy or radiation therapy may alter methylation patterns
Compare With Similar Tests
| Test | Human Bisulfite Sequencing and Analysis | Whole Exome Sequencing | Methylation-Specific PCR | Microarray |
|---|---|---|---|---|
| Comparison | Human Bisulfite Sequencing and Analysis |
Frequently Asked Questions
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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